It is important to find out that one generation inherits Tay Sach disease to another. Thus it is a good idea to test whether a patient has this diseaese or not, because without the carrier screening, it can always remain hidden in the generations and suddenly appear unexpectedly with to child.
How?
There are two ways to do carrier testings. One is called an "enzyme assay," and another one is called a "DNA-based blood testing." Enzyme assay:
Enzyme assay is a biochemical test that measures the amount of enzymes which are related to genetic disorders.
Because Tay Sachs disease is caused by a lack of Hex A enzymes, carriers have less Hex A enzymes than non-carriers. Therefore the enzyme assay measures the amount of Hex A in the blood and looks for mutations in the genes that conduct the production of Hex A enzyme.
DNA studies:
This is a test which look for known mutations in the Hex A genes that cause the four forms of Tay Sachs. The DNA testing can be used when the results of the user carrier screening tests are uncertain. It can be also used to diagnose onset Hex A deficiency.
Tay Sachs Carrier Testing
It is important to find out that one generation inherits Tay Sach disease to another. Thus it is a good idea to test whether a patient has this diseaese or not, because without the carrier screening, it can always remain hidden in the generations and suddenly appear unexpectedly with to child.
How?
There are two ways to do carrier testings. One is called an "enzyme assay," and another one is called a "DNA-based blood testing."Enzyme assay:
Enzyme assay is a biochemical test that measures the amount of enzymes which are related to genetic disorders.
Because Tay Sachs disease is caused by a lack of Hex A enzymes, carriers have less Hex A enzymes than non-carriers. Therefore the enzyme assay measures the amount of Hex A in the blood and looks for mutations in the genes that conduct the production of Hex A enzyme.
DNA studies:
This is a test which look for known mutations in the Hex A genes that cause the four forms of Tay Sachs. The DNA testing can be used when the results of the user carrier screening tests are uncertain. It can be also used to diagnose onset Hex A deficiency.
Bibliography-->